Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.63488544_63488549delCA627148125ACEc.2306-104_2306-99del (n.2306-104_2306-99del)
c.584-104_584-99del (n.584-104_584-99del)
c.*376-104_*376-99del (n.*376-104_*376-99del)
c.487-26_487-21del (n.487-26_487-21del)
c.584-26_584-21del (n.584-26_584-21del)
c.*226-104_*226-99del (n.*226-104_*226-99del)
c.74-104_74-99del (n.74-104_74-99del)
n.252-104_252-99del
c.1757-104_1757-99del (n.1757-104_1757-99del)
c.644-104_644-99del (n.644-104_644-99del)
c.1739-104_1739-99del (n.1739-104_1739-99del)
c.1454-104_1454-99del (n.1454-104_1454-99del)
c.236-104_236-99del (n.236-104_236-99del)
n.606-26_606-21del
 gnomAD v2 gnomAD v3 gnomAD v4
17g.63488545_63488549delinsTGTGGCA2269945853ACEc.2306-103_2306-99delinsTGTGG (n.2306-103_2306-99delinsTGTGG)
c.584-103_584-99delinsTGTGG (n.584-103_584-99delinsTGTGG)
c.*376-103_*376-99delinsTGTGG (n.*376-103_*376-99delinsTGTGG)
c.487-25_487-21delinsTGTGG (n.487-25_487-21delinsTGTGG)
c.584-25_584-21delinsTGTGG (n.584-25_584-21delinsTGTGG)
c.*226-103_*226-99delinsTGTGG (n.*226-103_*226-99delinsTGTGG)
c.74-103_74-99delinsTGTGG (n.74-103_74-99delinsTGTGG)
n.252-103_252-99delinsTGTGG
c.1757-103_1757-99delinsTGTGG (n.1757-103_1757-99delinsTGTGG)
c.644-103_644-99delinsTGTGG (n.644-103_644-99delinsTGTGG)
c.1739-103_1739-99delinsTGTGG (n.1739-103_1739-99delinsTGTGG)
c.1454-103_1454-99delinsTGTGG (n.1454-103_1454-99delinsTGTGG)
c.236-103_236-99delinsTGTGG (n.236-103_236-99delinsTGTGG)
n.606-25_606-21delinsTGTGG
17g.63488546G>CCA627148136ACEc.2306-102G>C (n.2306-102G>C)
c.584-102G>C (n.584-102G>C)
c.*376-102G>C (n.*376-102G>C)
c.487-24G>C (n.487-24G>C)
c.584-24G>C (n.584-24G>C)
c.*226-102G>C (n.*226-102G>C)
c.74-102G>C (n.74-102G>C)
n.252-102G>C
c.1757-102G>C (n.1757-102G>C)
c.644-102G>C (n.644-102G>C)
c.1739-102G>C (n.1739-102G>C)
c.1454-102G>C (n.1454-102G>C)
c.236-102G>C (n.236-102G>C)
n.606-24G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63488546G=CA2269945855ACEc.2306-102G= (n.2306-102G=)
c.584-102G= (n.584-102G=)
c.*376-102G= (n.*376-102G=)
c.487-24G= (n.487-24G=)
c.584-24G= (n.584-24G=)
c.*226-102G= (n.*226-102G=)
c.74-102G= (n.74-102G=)
n.252-102G=
c.1757-102G= (n.1757-102G=)
c.644-102G= (n.644-102G=)
c.1739-102G= (n.1739-102G=)
c.1454-102G= (n.1454-102G=)
c.236-102G= (n.236-102G=)
n.606-24G=
17g.63488546G>TCA627148135ACEc.2306-102G>T (n.2306-102G>T)
c.584-102G>T (n.584-102G>T)
c.*376-102G>T (n.*376-102G>T)
c.487-24G>T (n.487-24G>T)
c.584-24G>T (n.584-24G>T)
c.*226-102G>T (n.*226-102G>T)
c.74-102G>T (n.74-102G>T)
n.252-102G>T
c.1757-102G>T (n.1757-102G>T)
c.644-102G>T (n.644-102G>T)
c.1739-102G>T (n.1739-102G>T)
c.1454-102G>T (n.1454-102G>T)
c.236-102G>T (n.236-102G>T)
n.606-24G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63488546_63488549delCA8700024ACEc.2306-102_2306-99del (n.2306-102_2306-99del)
c.584-102_584-99del (n.584-102_584-99del)
c.*376-102_*376-99del (n.*376-102_*376-99del)
c.487-24_487-21del (n.487-24_487-21del)
c.584-24_584-21del (n.584-24_584-21del)
c.*226-102_*226-99del (n.*226-102_*226-99del)
c.74-102_74-99del (n.74-102_74-99del)
n.252-102_252-99del
c.1757-102_1757-99del (n.1757-102_1757-99del)
c.644-102_644-99del (n.644-102_644-99del)
c.1739-102_1739-99del (n.1739-102_1739-99del)
c.1454-102_1454-99del (n.1454-102_1454-99del)
c.236-102_236-99del (n.236-102_236-99del)
n.606-24_606-21del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63488547T>ACA2639263654ACEc.2306-101T>A (n.2306-101T>A)
c.584-101T>A (n.584-101T>A)
c.*376-101T>A (n.*376-101T>A)
c.487-23T>A (n.487-23T>A)
c.584-23T>A (n.584-23T>A)
c.*226-101T>A (n.*226-101T>A)
c.74-101T>A (n.74-101T>A)
n.252-101T>A
c.1757-101T>A (n.1757-101T>A)
c.644-101T>A (n.644-101T>A)
c.1739-101T>A (n.1739-101T>A)
c.1454-101T>A (n.1454-101T>A)
c.236-101T>A (n.236-101T>A)
n.606-23T>A
 gnomAD v4
17g.63488547T>GCA985411477ACEc.2306-101T>G (n.2306-101T>G)
c.584-101T>G (n.584-101T>G)
c.*376-101T>G (n.*376-101T>G)
c.487-23T>G (n.487-23T>G)
c.584-23T>G (n.584-23T>G)
c.*226-101T>G (n.*226-101T>G)
c.74-101T>G (n.74-101T>G)
n.252-101T>G
c.1757-101T>G (n.1757-101T>G)
c.644-101T>G (n.644-101T>G)
c.1739-101T>G (n.1739-101T>G)
c.1454-101T>G (n.1454-101T>G)
c.236-101T>G (n.236-101T>G)
n.606-23T>G
 gnomAD v3 gnomAD v4
17g.63488547T=CA2269945857ACEc.2306-101T= (n.2306-101T=)
c.584-101T= (n.584-101T=)
c.*376-101T= (n.*376-101T=)
c.487-23T= (n.487-23T=)
c.584-23T= (n.584-23T=)
c.*226-101T= (n.*226-101T=)
c.74-101T= (n.74-101T=)
n.252-101T=
c.1757-101T= (n.1757-101T=)
c.644-101T= (n.644-101T=)
c.1739-101T= (n.1739-101T=)
c.1454-101T= (n.1454-101T=)
c.236-101T= (n.236-101T=)
n.606-23T=
17g.63488547_63488548insCACCCAGGCTCA985411473ACEc.2306-101_2306-100insCACCCAGGCT (n.2306-101_2306-100insCACCCAGGCT)
c.584-101_584-100insCACCCAGGCT (n.584-101_584-100insCACCCAGGCT)
c.*376-101_*376-100insCACCCAGGCT (n.*376-101_*376-100insCACCCAGGCT)
c.487-23_487-22insCACCCAGGCT (n.487-23_487-22insCACCCAGGCT)
c.584-23_584-22insCACCCAGGCT (n.584-23_584-22insCACCCAGGCT)
c.*226-101_*226-100insCACCCAGGCT (n.*226-101_*226-100insCACCCAGGCT)
c.74-101_74-100insCACCCAGGCT (n.74-101_74-100insCACCCAGGCT)
n.252-101_252-100insCACCCAGGCT
c.1757-101_1757-100insCACCCAGGCT (n.1757-101_1757-100insCACCCAGGCT)
c.644-101_644-100insCACCCAGGCT (n.644-101_644-100insCACCCAGGCT)
c.1739-101_1739-100insCACCCAGGCT (n.1739-101_1739-100insCACCCAGGCT)
c.1454-101_1454-100insCACCCAGGCT (n.1454-101_1454-100insCACCCAGGCT)
c.236-101_236-100insCACCCAGGCT (n.236-101_236-100insCACCCAGGCT)
n.606-23_606-22insCACCCAGGCT
 gnomAD v3 gnomAD v4
17g.63488547_63488548insCGCCCAGGCTCA627148141ACEc.2306-101_2306-100insCGCCCAGGCT (n.2306-101_2306-100insCGCCCAGGCT)
c.584-101_584-100insCGCCCAGGCT (n.584-101_584-100insCGCCCAGGCT)
c.*376-101_*376-100insCGCCCAGGCT (n.*376-101_*376-100insCGCCCAGGCT)
c.487-23_487-22insCGCCCAGGCT (n.487-23_487-22insCGCCCAGGCT)
c.584-23_584-22insCGCCCAGGCT (n.584-23_584-22insCGCCCAGGCT)
c.*226-101_*226-100insCGCCCAGGCT (n.*226-101_*226-100insCGCCCAGGCT)
c.74-101_74-100insCGCCCAGGCT (n.74-101_74-100insCGCCCAGGCT)
n.252-101_252-100insCGCCCAGGCT
c.1757-101_1757-100insCGCCCAGGCT (n.1757-101_1757-100insCGCCCAGGCT)
c.644-101_644-100insCGCCCAGGCT (n.644-101_644-100insCGCCCAGGCT)
c.1739-101_1739-100insCGCCCAGGCT (n.1739-101_1739-100insCGCCCAGGCT)
c.1454-101_1454-100insCGCCCAGGCT (n.1454-101_1454-100insCGCCCAGGCT)
c.236-101_236-100insCGCCCAGGCT (n.236-101_236-100insCGCCCAGGCT)
n.606-23_606-22insCGCCCAGGCT
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63488547_63488549delinsTGGCA2269945856ACEc.2306-101_2306-99delinsTGG (n.2306-101_2306-99delinsTGG)
c.584-101_584-99delinsTGG (n.584-101_584-99delinsTGG)
c.*376-101_*376-99delinsTGG (n.*376-101_*376-99delinsTGG)
c.487-23_487-21delinsTGG (n.487-23_487-21delinsTGG)
c.584-23_584-21delinsTGG (n.584-23_584-21delinsTGG)
c.*226-101_*226-99delinsTGG (n.*226-101_*226-99delinsTGG)
c.74-101_74-99delinsTGG (n.74-101_74-99delinsTGG)
n.252-101_252-99delinsTGG
c.1757-101_1757-99delinsTGG (n.1757-101_1757-99delinsTGG)
c.644-101_644-99delinsTGG (n.644-101_644-99delinsTGG)
c.1739-101_1739-99delinsTGG (n.1739-101_1739-99delinsTGG)
c.1454-101_1454-99delinsTGG (n.1454-101_1454-99delinsTGG)
c.236-101_236-99delinsTGG (n.236-101_236-99delinsTGG)
n.606-23_606-21delinsTGG
17g.63488547_63488548insCTCCA985411481ACEc.2306-101_2306-100insCTC (n.2306-101_2306-100insCTC)
c.584-101_584-100insCTC (n.584-101_584-100insCTC)
c.*376-101_*376-100insCTC (n.*376-101_*376-100insCTC)
c.487-23_487-22insCTC (n.487-23_487-22insCTC)
c.584-23_584-22insCTC (n.584-23_584-22insCTC)
c.*226-101_*226-100insCTC (n.*226-101_*226-100insCTC)
c.74-101_74-100insCTC (n.74-101_74-100insCTC)
n.252-101_252-100insCTC
c.1757-101_1757-100insCTC (n.1757-101_1757-100insCTC)
c.644-101_644-100insCTC (n.644-101_644-100insCTC)
c.1739-101_1739-100insCTC (n.1739-101_1739-100insCTC)
c.1454-101_1454-100insCTC (n.1454-101_1454-100insCTC)
c.236-101_236-100insCTC (n.236-101_236-100insCTC)
n.606-23_606-22insCTC
 gnomAD v3 gnomAD v4
17g.63488547_63488548insCGCCCACA627148149ACEc.2306-101_2306-100insCGCCCA (n.2306-101_2306-100insCGCCCA)
c.584-101_584-100insCGCCCA (n.584-101_584-100insCGCCCA)
c.*376-101_*376-100insCGCCCA (n.*376-101_*376-100insCGCCCA)
c.487-23_487-22insCGCCCA (n.487-23_487-22insCGCCCA)
c.584-23_584-22insCGCCCA (n.584-23_584-22insCGCCCA)
c.*226-101_*226-100insCGCCCA (n.*226-101_*226-100insCGCCCA)
c.74-101_74-100insCGCCCA (n.74-101_74-100insCGCCCA)
n.252-101_252-100insCGCCCA
c.1757-101_1757-100insCGCCCA (n.1757-101_1757-100insCGCCCA)
c.644-101_644-100insCGCCCA (n.644-101_644-100insCGCCCA)
c.1739-101_1739-100insCGCCCA (n.1739-101_1739-100insCGCCCA)
c.1454-101_1454-100insCGCCCA (n.1454-101_1454-100insCGCCCA)
c.236-101_236-100insCGCCCA (n.236-101_236-100insCGCCCA)
n.606-23_606-22insCGCCCA
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63488547_63488548insTTTTTTTTACA2639263660ACEc.2306-101_2306-100insTTTTTTTTA (n.2306-101_2306-100insTTTTTTTTA)
c.584-101_584-100insTTTTTTTTA (n.584-101_584-100insTTTTTTTTA)
c.*376-101_*376-100insTTTTTTTTA (n.*376-101_*376-100insTTTTTTTTA)
c.487-23_487-22insTTTTTTTTA (n.487-23_487-22insTTTTTTTTA)
c.584-23_584-22insTTTTTTTTA (n.584-23_584-22insTTTTTTTTA)
c.*226-101_*226-100insTTTTTTTTA (n.*226-101_*226-100insTTTTTTTTA)
c.74-101_74-100insTTTTTTTTA (n.74-101_74-100insTTTTTTTTA)
n.252-101_252-100insTTTTTTTTA
c.1757-101_1757-100insTTTTTTTTA (n.1757-101_1757-100insTTTTTTTTA)
c.644-101_644-100insTTTTTTTTA (n.644-101_644-100insTTTTTTTTA)
c.1739-101_1739-100insTTTTTTTTA (n.1739-101_1739-100insTTTTTTTTA)
c.1454-101_1454-100insTTTTTTTTA (n.1454-101_1454-100insTTTTTTTTA)
c.236-101_236-100insTTTTTTTTA (n.236-101_236-100insTTTTTTTTA)
n.606-23_606-22insTTTTTTTTA
 gnomAD v4
17g.63488547_63488548insTTTTTTTTGCA2639263658ACEc.2306-101_2306-100insTTTTTTTTG (n.2306-101_2306-100insTTTTTTTTG)
c.584-101_584-100insTTTTTTTTG (n.584-101_584-100insTTTTTTTTG)
c.*376-101_*376-100insTTTTTTTTG (n.*376-101_*376-100insTTTTTTTTG)
c.487-23_487-22insTTTTTTTTG (n.487-23_487-22insTTTTTTTTG)
c.584-23_584-22insTTTTTTTTG (n.584-23_584-22insTTTTTTTTG)
c.*226-101_*226-100insTTTTTTTTG (n.*226-101_*226-100insTTTTTTTTG)
c.74-101_74-100insTTTTTTTTG (n.74-101_74-100insTTTTTTTTG)
n.252-101_252-100insTTTTTTTTG
c.1757-101_1757-100insTTTTTTTTG (n.1757-101_1757-100insTTTTTTTTG)
c.644-101_644-100insTTTTTTTTG (n.644-101_644-100insTTTTTTTTG)
c.1739-101_1739-100insTTTTTTTTG (n.1739-101_1739-100insTTTTTTTTG)
c.1454-101_1454-100insTTTTTTTTG (n.1454-101_1454-100insTTTTTTTTG)
c.236-101_236-100insTTTTTTTTG (n.236-101_236-100insTTTTTTTTG)
n.606-23_606-22insTTTTTTTTG
 gnomAD v4
17g.63488547_63488548insTTTTTTGAGACCA985411485ACEc.2306-101_2306-100insTTTTTTGAGAC (n.2306-101_2306-100insTTTTTTGAGAC)
c.584-101_584-100insTTTTTTGAGAC (n.584-101_584-100insTTTTTTGAGAC)
c.*376-101_*376-100insTTTTTTGAGAC (n.*376-101_*376-100insTTTTTTGAGAC)
c.487-23_487-22insTTTTTTGAGAC (n.487-23_487-22insTTTTTTGAGAC)
c.584-23_584-22insTTTTTTGAGAC (n.584-23_584-22insTTTTTTGAGAC)
c.*226-101_*226-100insTTTTTTGAGAC (n.*226-101_*226-100insTTTTTTGAGAC)
c.74-101_74-100insTTTTTTGAGAC (n.74-101_74-100insTTTTTTGAGAC)
n.252-101_252-100insTTTTTTGAGAC
c.1757-101_1757-100insTTTTTTGAGAC (n.1757-101_1757-100insTTTTTTGAGAC)
c.644-101_644-100insTTTTTTGAGAC (n.644-101_644-100insTTTTTTGAGAC)
c.1739-101_1739-100insTTTTTTGAGAC (n.1739-101_1739-100insTTTTTTGAGAC)
c.1454-101_1454-100insTTTTTTGAGAC (n.1454-101_1454-100insTTTTTTGAGAC)
c.236-101_236-100insTTTTTTGAGAC (n.236-101_236-100insTTTTTTGAGAC)
n.606-23_606-22insTTTTTTGAGAC
 gnomAD v3 gnomAD v4
17g.63488547_63488548insTTTTTTTGAGACCA627148142ACEc.2306-101_2306-100insTTTTTTTGAGAC (n.2306-101_2306-100insTTTTTTTGAGAC)
c.584-101_584-100insTTTTTTTGAGAC (n.584-101_584-100insTTTTTTTGAGAC)
c.*376-101_*376-100insTTTTTTTGAGAC (n.*376-101_*376-100insTTTTTTTGAGAC)
c.487-23_487-22insTTTTTTTGAGAC (n.487-23_487-22insTTTTTTTGAGAC)
c.584-23_584-22insTTTTTTTGAGAC (n.584-23_584-22insTTTTTTTGAGAC)
c.*226-101_*226-100insTTTTTTTGAGAC (n.*226-101_*226-100insTTTTTTTGAGAC)
c.74-101_74-100insTTTTTTTGAGAC (n.74-101_74-100insTTTTTTTGAGAC)
n.252-101_252-100insTTTTTTTGAGAC
c.1757-101_1757-100insTTTTTTTGAGAC (n.1757-101_1757-100insTTTTTTTGAGAC)
c.644-101_644-100insTTTTTTTGAGAC (n.644-101_644-100insTTTTTTTGAGAC)
c.1739-101_1739-100insTTTTTTTGAGAC (n.1739-101_1739-100insTTTTTTTGAGAC)
c.1454-101_1454-100insTTTTTTTGAGAC (n.1454-101_1454-100insTTTTTTTGAGAC)
c.236-101_236-100insTTTTTTTGAGAC (n.236-101_236-100insTTTTTTTGAGAC)
n.606-23_606-22insTTTTTTTGAGAC
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63488547_63488548insTTTTTTTTAGACCA2639263659ACEc.2306-101_2306-100insTTTTTTTTAGAC (n.2306-101_2306-100insTTTTTTTTAGAC)
c.584-101_584-100insTTTTTTTTAGAC (n.584-101_584-100insTTTTTTTTAGAC)
c.*376-101_*376-100insTTTTTTTTAGAC (n.*376-101_*376-100insTTTTTTTTAGAC)
c.487-23_487-22insTTTTTTTTAGAC (n.487-23_487-22insTTTTTTTTAGAC)
c.584-23_584-22insTTTTTTTTAGAC (n.584-23_584-22insTTTTTTTTAGAC)
c.*226-101_*226-100insTTTTTTTTAGAC (n.*226-101_*226-100insTTTTTTTTAGAC)
c.74-101_74-100insTTTTTTTTAGAC (n.74-101_74-100insTTTTTTTTAGAC)
n.252-101_252-100insTTTTTTTTAGAC
c.1757-101_1757-100insTTTTTTTTAGAC (n.1757-101_1757-100insTTTTTTTTAGAC)
c.644-101_644-100insTTTTTTTTAGAC (n.644-101_644-100insTTTTTTTTAGAC)
c.1739-101_1739-100insTTTTTTTTAGAC (n.1739-101_1739-100insTTTTTTTTAGAC)
c.1454-101_1454-100insTTTTTTTTAGAC (n.1454-101_1454-100insTTTTTTTTAGAC)
c.236-101_236-100insTTTTTTTTAGAC (n.236-101_236-100insTTTTTTTTAGAC)
n.606-23_606-22insTTTTTTTTAGAC
 gnomAD v4
17g.63488547_63488548insTTTTTTTTGAGACCA627148144ACEc.2306-101_2306-100insTTTTTTTTGAGAC (n.2306-101_2306-100insTTTTTTTTGAGAC)
c.584-101_584-100insTTTTTTTTGAGAC (n.584-101_584-100insTTTTTTTTGAGAC)
c.*376-101_*376-100insTTTTTTTTGAGAC (n.*376-101_*376-100insTTTTTTTTGAGAC)
c.487-23_487-22insTTTTTTTTGAGAC (n.487-23_487-22insTTTTTTTTGAGAC)
c.584-23_584-22insTTTTTTTTGAGAC (n.584-23_584-22insTTTTTTTTGAGAC)
c.*226-101_*226-100insTTTTTTTTGAGAC (n.*226-101_*226-100insTTTTTTTTGAGAC)
c.74-101_74-100insTTTTTTTTGAGAC (n.74-101_74-100insTTTTTTTTGAGAC)
n.252-101_252-100insTTTTTTTTGAGAC
c.1757-101_1757-100insTTTTTTTTGAGAC (n.1757-101_1757-100insTTTTTTTTGAGAC)
c.644-101_644-100insTTTTTTTTGAGAC (n.644-101_644-100insTTTTTTTTGAGAC)
c.1739-101_1739-100insTTTTTTTTGAGAC (n.1739-101_1739-100insTTTTTTTTGAGAC)
c.1454-101_1454-100insTTTTTTTTGAGAC (n.1454-101_1454-100insTTTTTTTTGAGAC)
c.236-101_236-100insTTTTTTTTGAGAC (n.236-101_236-100insTTTTTTTTGAGAC)
n.606-23_606-22insTTTTTTTTGAGAC
 gnomAD v2 gnomAD v3 gnomAD v4
17g.63488547_63488548insTTTTTTTTTAGACCA2639263657ACEc.2306-101_2306-100insTTTTTTTTTAGAC (n.2306-101_2306-100insTTTTTTTTTAGAC)
c.584-101_584-100insTTTTTTTTTAGAC (n.584-101_584-100insTTTTTTTTTAGAC)
c.*376-101_*376-100insTTTTTTTTTAGAC (n.*376-101_*376-100insTTTTTTTTTAGAC)
c.487-23_487-22insTTTTTTTTTAGAC (n.487-23_487-22insTTTTTTTTTAGAC)
c.584-23_584-22insTTTTTTTTTAGAC (n.584-23_584-22insTTTTTTTTTAGAC)
c.*226-101_*226-100insTTTTTTTTTAGAC (n.*226-101_*226-100insTTTTTTTTTAGAC)
c.74-101_74-100insTTTTTTTTTAGAC (n.74-101_74-100insTTTTTTTTTAGAC)
n.252-101_252-100insTTTTTTTTTAGAC
c.1757-101_1757-100insTTTTTTTTTAGAC (n.1757-101_1757-100insTTTTTTTTTAGAC)
c.644-101_644-100insTTTTTTTTTAGAC (n.644-101_644-100insTTTTTTTTTAGAC)
c.1739-101_1739-100insTTTTTTTTTAGAC (n.1739-101_1739-100insTTTTTTTTTAGAC)
c.1454-101_1454-100insTTTTTTTTTAGAC (n.1454-101_1454-100insTTTTTTTTTAGAC)
c.236-101_236-100insTTTTTTTTTAGAC (n.236-101_236-100insTTTTTTTTTAGAC)
n.606-23_606-22insTTTTTTTTTAGAC
 gnomAD v4
17g.63488547_63488548insTTTTTTTTTGAGACCA2639263656ACEc.2306-101_2306-100insTTTTTTTTTGAGAC (n.2306-101_2306-100insTTTTTTTTTGAGAC)
c.584-101_584-100insTTTTTTTTTGAGAC (n.584-101_584-100insTTTTTTTTTGAGAC)
c.*376-101_*376-100insTTTTTTTTTGAGAC (n.*376-101_*376-100insTTTTTTTTTGAGAC)
c.487-23_487-22insTTTTTTTTTGAGAC (n.487-23_487-22insTTTTTTTTTGAGAC)
c.584-23_584-22insTTTTTTTTTGAGAC (n.584-23_584-22insTTTTTTTTTGAGAC)
c.*226-101_*226-100insTTTTTTTTTGAGAC (n.*226-101_*226-100insTTTTTTTTTGAGAC)
c.74-101_74-100insTTTTTTTTTGAGAC (n.74-101_74-100insTTTTTTTTTGAGAC)
n.252-101_252-100insTTTTTTTTTGAGAC
c.1757-101_1757-100insTTTTTTTTTGAGAC (n.1757-101_1757-100insTTTTTTTTTGAGAC)
c.644-101_644-100insTTTTTTTTTGAGAC (n.644-101_644-100insTTTTTTTTTGAGAC)
c.1739-101_1739-100insTTTTTTTTTGAGAC (n.1739-101_1739-100insTTTTTTTTTGAGAC)
c.1454-101_1454-100insTTTTTTTTTGAGAC (n.1454-101_1454-100insTTTTTTTTTGAGAC)
c.236-101_236-100insTTTTTTTTTGAGAC (n.236-101_236-100insTTTTTTTTTGAGAC)
n.606-23_606-22insTTTTTTTTTGAGAC
 gnomAD v4
17g.63488547_63488548insCGCCGAGGCTGGAGTGCAGTGGCCA2639263655ACEc.2306-101_2306-100insCGCCGAGGCTGGAGTGCAGTGGC (n.2306-101_2306-100insCGCCGAGGCTGGAGTGCAGTGGC)
c.584-101_584-100insCGCCGAGGCTGGAGTGCAGTGGC (n.584-101_584-100insCGCCGAGGCTGGAGTGCAGTGGC)
c.*376-101_*376-100insCGCCGAGGCTGGAGTGCAGTGGC (n.*376-101_*376-100insCGCCGAGGCTGGAGTGCAGTGGC)
c.487-23_487-22insCGCCGAGGCTGGAGTGCAGTGGC (n.487-23_487-22insCGCCGAGGCTGGAGTGCAGTGGC)
c.584-23_584-22insCGCCGAGGCTGGAGTGCAGTGGC (n.584-23_584-22insCGCCGAGGCTGGAGTGCAGTGGC)
c.*226-101_*226-100insCGCCGAGGCTGGAGTGCAGTGGC (n.*226-101_*226-100insCGCCGAGGCTGGAGTGCAGTGGC)
c.74-101_74-100insCGCCGAGGCTGGAGTGCAGTGGC (n.74-101_74-100insCGCCGAGGCTGGAGTGCAGTGGC)
n.252-101_252-100insCGCCGAGGCTGGAGTGCAGTGGC
c.1757-101_1757-100insCGCCGAGGCTGGAGTGCAGTGGC (n.1757-101_1757-100insCGCCGAGGCTGGAGTGCAGTGGC)
c.644-101_644-100insCGCCGAGGCTGGAGTGCAGTGGC (n.644-101_644-100insCGCCGAGGCTGGAGTGCAGTGGC)
c.1739-101_1739-100insCGCCGAGGCTGGAGTGCAGTGGC (n.1739-101_1739-100insCGCCGAGGCTGGAGTGCAGTGGC)
c.1454-101_1454-100insCGCCGAGGCTGGAGTGCAGTGGC (n.1454-101_1454-100insCGCCGAGGCTGGAGTGCAGTGGC)
c.236-101_236-100insCGCCGAGGCTGGAGTGCAGTGGC (n.236-101_236-100insCGCCGAGGCTGGAGTGCAGTGGC)
n.606-23_606-22insCGCCGAGGCTGGAGTGCAGTGGC
 gnomAD v4
17g.63488547_63488548insCGCCCAGGCTGGAGTGCAGTGGCCA627148148ACEc.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTGGC (n.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTGGC)
c.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGC (n.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGC)
c.*376-101_*376-100insCGCCCAGGCTGGAGTGCAGTGGC (n.*376-101_*376-100insCGCCCAGGCTGGAGTGCAGTGGC)
c.487-23_487-22insCGCCCAGGCTGGAGTGCAGTGGC (n.487-23_487-22insCGCCCAGGCTGGAGTGCAGTGGC)
c.584-23_584-22insCGCCCAGGCTGGAGTGCAGTGGC (n.584-23_584-22insCGCCCAGGCTGGAGTGCAGTGGC)
c.*226-101_*226-100insCGCCCAGGCTGGAGTGCAGTGGC (n.*226-101_*226-100insCGCCCAGGCTGGAGTGCAGTGGC)
c.74-101_74-100insCGCCCAGGCTGGAGTGCAGTGGC (n.74-101_74-100insCGCCCAGGCTGGAGTGCAGTGGC)
n.252-101_252-100insCGCCCAGGCTGGAGTGCAGTGGC
c.1757-101_1757-100insCGCCCAGGCTGGAGTGCAGTGGC (n.1757-101_1757-100insCGCCCAGGCTGGAGTGCAGTGGC)
c.644-101_644-100insCGCCCAGGCTGGAGTGCAGTGGC (n.644-101_644-100insCGCCCAGGCTGGAGTGCAGTGGC)
c.1739-101_1739-100insCGCCCAGGCTGGAGTGCAGTGGC (n.1739-101_1739-100insCGCCCAGGCTGGAGTGCAGTGGC)
c.1454-101_1454-100insCGCCCAGGCTGGAGTGCAGTGGC (n.1454-101_1454-100insCGCCCAGGCTGGAGTGCAGTGGC)
c.236-101_236-100insCGCCCAGGCTGGAGTGCAGTGGC (n.236-101_236-100insCGCCCAGGCTGGAGTGCAGTGGC)
n.606-23_606-22insCGCCCAGGCTGGAGTGCAGTGGC
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63488547_63488548insCGCCCAGGCTGGAGTGCAGTGGCGCA627148146ACEc.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTGGCG (n.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTGGCG)
c.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGCG (n.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGCG)
c.*376-101_*376-100insCGCCCAGGCTGGAGTGCAGTGGCG (n.*376-101_*376-100insCGCCCAGGCTGGAGTGCAGTGGCG)
c.487-23_487-22insCGCCCAGGCTGGAGTGCAGTGGCG (n.487-23_487-22insCGCCCAGGCTGGAGTGCAGTGGCG)
c.584-23_584-22insCGCCCAGGCTGGAGTGCAGTGGCG (n.584-23_584-22insCGCCCAGGCTGGAGTGCAGTGGCG)
c.*226-101_*226-100insCGCCCAGGCTGGAGTGCAGTGGCG (n.*226-101_*226-100insCGCCCAGGCTGGAGTGCAGTGGCG)
c.74-101_74-100insCGCCCAGGCTGGAGTGCAGTGGCG (n.74-101_74-100insCGCCCAGGCTGGAGTGCAGTGGCG)
n.252-101_252-100insCGCCCAGGCTGGAGTGCAGTGGCG
c.1757-101_1757-100insCGCCCAGGCTGGAGTGCAGTGGCG (n.1757-101_1757-100insCGCCCAGGCTGGAGTGCAGTGGCG)
c.644-101_644-100insCGCCCAGGCTGGAGTGCAGTGGCG (n.644-101_644-100insCGCCCAGGCTGGAGTGCAGTGGCG)
c.1739-101_1739-100insCGCCCAGGCTGGAGTGCAGTGGCG (n.1739-101_1739-100insCGCCCAGGCTGGAGTGCAGTGGCG)
c.1454-101_1454-100insCGCCCAGGCTGGAGTGCAGTGGCG (n.1454-101_1454-100insCGCCCAGGCTGGAGTGCAGTGGCG)
c.236-101_236-100insCGCCCAGGCTGGAGTGCAGTGGCG (n.236-101_236-100insCGCCCAGGCTGGAGTGCAGTGGCG)
n.606-23_606-22insCGCCCAGGCTGGAGTGCAGTGGCG
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63488547_63488548insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCCA627148150ACEc.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC)
c.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC)
c.*376-101_*376-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.*376-101_*376-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC)
c.487-23_487-22insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.487-23_487-22insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC)
c.584-23_584-22insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.584-23_584-22insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC)
c.*226-101_*226-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.*226-101_*226-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC)
c.74-101_74-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.74-101_74-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC)
n.252-101_252-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC
c.1757-101_1757-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.1757-101_1757-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC)
c.644-101_644-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.644-101_644-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC)
c.1739-101_1739-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.1739-101_1739-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC)
c.1454-101_1454-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.1454-101_1454-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC)
c.236-101_236-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC (n.236-101_236-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC)
n.606-23_606-22insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC
 gnomAD v2
17g.63488547_63488548insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGCA627148145ACEc.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG)
c.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG)
c.*376-101_*376-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.*376-101_*376-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG)
c.487-23_487-22insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.487-23_487-22insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG)
c.584-23_584-22insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.584-23_584-22insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG)
c.*226-101_*226-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.*226-101_*226-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG)
c.74-101_74-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.74-101_74-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG)
n.252-101_252-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG
c.1757-101_1757-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.1757-101_1757-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG)
c.644-101_644-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.644-101_644-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG)
c.1739-101_1739-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.1739-101_1739-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG)
c.1454-101_1454-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.1454-101_1454-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG)
c.236-101_236-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG (n.236-101_236-100insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG)
n.606-23_606-22insCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG
 gnomAD v2
17g.63488548G>ACA985411487ACEc.2306-100G>A (n.2306-100G>A)
c.584-100G>A (n.584-100G>A)
c.*376-100G>A (n.*376-100G>A)
c.487-22G>A (n.487-22G>A)
c.584-22G>A (n.584-22G>A)
c.*226-100G>A (n.*226-100G>A)
c.74-100G>A (n.74-100G>A)
n.252-100G>A
c.1757-100G>A (n.1757-100G>A)
c.644-100G>A (n.644-100G>A)
c.1739-100G>A (n.1739-100G>A)
c.1454-100G>A (n.1454-100G>A)
c.236-100G>A (n.236-100G>A)
n.606-22G>A
 dbSNP gnomAD v3 gnomAD v4
17g.63488548G=CA2269945858ACEc.2306-100G= (n.2306-100G=)
c.584-100G= (n.584-100G=)
c.*376-100G= (n.*376-100G=)
c.487-22G= (n.487-22G=)
c.584-22G= (n.584-22G=)
c.*226-100G= (n.*226-100G=)
c.74-100G= (n.74-100G=)
n.252-100G=
c.1757-100G= (n.1757-100G=)
c.644-100G= (n.644-100G=)
c.1739-100G= (n.1739-100G=)
c.1454-100G= (n.1454-100G=)
c.236-100G= (n.236-100G=)
n.606-22G=
17g.63488548G>TCA627148143ACEc.2306-100G>T (n.2306-100G>T)
c.584-100G>T (n.584-100G>T)
c.*376-100G>T (n.*376-100G>T)
c.487-22G>T (n.487-22G>T)
c.584-22G>T (n.584-22G>T)
c.*226-100G>T (n.*226-100G>T)
c.74-100G>T (n.74-100G>T)
n.252-100G>T
c.1757-100G>T (n.1757-100G>T)
c.644-100G>T (n.644-100G>T)
c.1739-100G>T (n.1739-100G>T)
c.1454-100G>T (n.1454-100G>T)
c.236-100G>T (n.236-100G>T)
n.606-22G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63488548_63488549delCA627148147ACEc.2306-100_2306-99del (n.2306-100_2306-99del)
c.584-100_584-99del (n.584-100_584-99del)
c.*376-100_*376-99del (n.*376-100_*376-99del)
c.487-22_487-21del (n.487-22_487-21del)
c.584-22_584-21del (n.584-22_584-21del)
c.*226-100_*226-99del (n.*226-100_*226-99del)
c.74-100_74-99del (n.74-100_74-99del)
n.252-100_252-99del
c.1757-100_1757-99del (n.1757-100_1757-99del)
c.644-100_644-99del (n.644-100_644-99del)
c.1739-100_1739-99del (n.1739-100_1739-99del)
c.1454-100_1454-99del (n.1454-100_1454-99del)
c.236-100_236-99del (n.236-100_236-99del)
n.606-22_606-21del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63488548_63488549insCACA627148152ACEc.2306-100_2306-99insCA (n.2306-100_2306-99insCA)
c.584-100_584-99insCA (n.584-100_584-99insCA)
c.*376-100_*376-99insCA (n.*376-100_*376-99insCA)
c.487-22_487-21insCA (n.487-22_487-21insCA)
c.584-22_584-21insCA (n.584-22_584-21insCA)
c.*226-100_*226-99insCA (n.*226-100_*226-99insCA)
c.74-100_74-99insCA (n.74-100_74-99insCA)
n.252-100_252-99insCA
c.1757-100_1757-99insCA (n.1757-100_1757-99insCA)
c.644-100_644-99insCA (n.644-100_644-99insCA)
c.1739-100_1739-99insCA (n.1739-100_1739-99insCA)
c.1454-100_1454-99insCA (n.1454-100_1454-99insCA)
c.236-100_236-99insCA (n.236-100_236-99insCA)
n.606-22_606-21insCA
 gnomAD v2
17g.63488548_63488549insACGGACA2639263661ACEc.2306-100_2306-99insACGGA (n.2306-100_2306-99insACGGA)
c.584-100_584-99insACGGA (n.584-100_584-99insACGGA)
c.*376-100_*376-99insACGGA (n.*376-100_*376-99insACGGA)
c.487-22_487-21insACGGA (n.487-22_487-21insACGGA)
c.584-22_584-21insACGGA (n.584-22_584-21insACGGA)
c.*226-100_*226-99insACGGA (n.*226-100_*226-99insACGGA)
c.74-100_74-99insACGGA (n.74-100_74-99insACGGA)
n.252-100_252-99insACGGA
c.1757-100_1757-99insACGGA (n.1757-100_1757-99insACGGA)
c.644-100_644-99insACGGA (n.644-100_644-99insACGGA)
c.1739-100_1739-99insACGGA (n.1739-100_1739-99insACGGA)
c.1454-100_1454-99insACGGA (n.1454-100_1454-99insACGGA)
c.236-100_236-99insACGGA (n.236-100_236-99insACGGA)
n.606-22_606-21insACGGA
 gnomAD v4
17g.63488548_63488549insAGACGGACA627148151ACEc.2306-100_2306-99insAGACGGA (n.2306-100_2306-99insAGACGGA)
c.584-100_584-99insAGACGGA (n.584-100_584-99insAGACGGA)
c.*376-100_*376-99insAGACGGA (n.*376-100_*376-99insAGACGGA)
c.487-22_487-21insAGACGGA (n.487-22_487-21insAGACGGA)
c.584-22_584-21insAGACGGA (n.584-22_584-21insAGACGGA)
c.*226-100_*226-99insAGACGGA (n.*226-100_*226-99insAGACGGA)
c.74-100_74-99insAGACGGA (n.74-100_74-99insAGACGGA)
n.252-100_252-99insAGACGGA
c.1757-100_1757-99insAGACGGA (n.1757-100_1757-99insAGACGGA)
c.644-100_644-99insAGACGGA (n.644-100_644-99insAGACGGA)
c.1739-100_1739-99insAGACGGA (n.1739-100_1739-99insAGACGGA)
c.1454-100_1454-99insAGACGGA (n.1454-100_1454-99insAGACGGA)
c.236-100_236-99insAGACGGA (n.236-100_236-99insAGACGGA)
n.606-22_606-21insAGACGGA
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63488549G=CA2269945859ACEc.2306-99G= (n.2306-99G=)
c.584-99G= (n.584-99G=)
c.*376-99G= (n.*376-99G=)
c.487-21G= (n.487-21G=)
c.584-21G= (n.584-21G=)
c.*226-99G= (n.*226-99G=)
c.74-99G= (n.74-99G=)
n.252-99G=
c.1757-99G= (n.1757-99G=)
c.644-99G= (n.644-99G=)
c.1739-99G= (n.1739-99G=)
c.1454-99G= (n.1454-99G=)
c.236-99G= (n.236-99G=)
n.606-21G=
17g.63488549G>TCA627148153ACEc.2306-99G>T (n.2306-99G>T)
c.584-99G>T (n.584-99G>T)
c.*376-99G>T (n.*376-99G>T)
c.487-21G>T (n.487-21G>T)
c.584-21G>T (n.584-21G>T)
c.*226-99G>T (n.*226-99G>T)
c.74-99G>T (n.74-99G>T)
n.252-99G>T
c.1757-99G>T (n.1757-99G>T)
c.644-99G>T (n.644-99G>T)
c.1739-99G>T (n.1739-99G>T)
c.1454-99G>T (n.1454-99G>T)
c.236-99G>T (n.236-99G>T)
n.606-21G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63488549_63488550insCGGGACA2810114478ACEc.2306-99_2306-98insCGGGA (n.2306-99_2306-98insCGGGA)
c.584-99_584-98insCGGGA (n.584-99_584-98insCGGGA)
c.*376-99_*376-98insCGGGA (n.*376-99_*376-98insCGGGA)
c.487-21_487-20insCGGGA (n.487-21_487-20insCGGGA)
c.584-21_584-20insCGGGA (n.584-21_584-20insCGGGA)
c.*226-99_*226-98insCGGGA (n.*226-99_*226-98insCGGGA)
c.74-99_74-98insCGGGA (n.74-99_74-98insCGGGA)
n.252-99_252-98insCGGGA
c.1757-99_1757-98insCGGGA (n.1757-99_1757-98insCGGGA)
c.644-99_644-98insCGGGA (n.644-99_644-98insCGGGA)
c.1739-99_1739-98insCGGGA (n.1739-99_1739-98insCGGGA)
c.1454-99_1454-98insCGGGA (n.1454-99_1454-98insCGGGA)
c.236-99_236-98insCGGGA (n.236-99_236-98insCGGGA)
n.606-21_606-20insCGGGA
17g.63488549_63488550insAGTCTCGCTCCA627148154ACEc.2306-99_2306-98insAGTCTCGCTC (n.2306-99_2306-98insAGTCTCGCTC)
c.584-99_584-98insAGTCTCGCTC (n.584-99_584-98insAGTCTCGCTC)
c.*376-99_*376-98insAGTCTCGCTC (n.*376-99_*376-98insAGTCTCGCTC)
c.487-21_487-20insAGTCTCGCTC (n.487-21_487-20insAGTCTCGCTC)
c.584-21_584-20insAGTCTCGCTC (n.584-21_584-20insAGTCTCGCTC)
c.*226-99_*226-98insAGTCTCGCTC (n.*226-99_*226-98insAGTCTCGCTC)
c.74-99_74-98insAGTCTCGCTC (n.74-99_74-98insAGTCTCGCTC)
n.252-99_252-98insAGTCTCGCTC
c.1757-99_1757-98insAGTCTCGCTC (n.1757-99_1757-98insAGTCTCGCTC)
c.644-99_644-98insAGTCTCGCTC (n.644-99_644-98insAGTCTCGCTC)
c.1739-99_1739-98insAGTCTCGCTC (n.1739-99_1739-98insAGTCTCGCTC)
c.1454-99_1454-98insAGTCTCGCTC (n.1454-99_1454-98insAGTCTCGCTC)
c.236-99_236-98insAGTCTCGCTC (n.236-99_236-98insAGTCTCGCTC)
n.606-21_606-20insAGTCTCGCTC
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63488550T>CCA2269945861ACEc.2306-98T>C (n.2306-98T>C)
c.584-98T>C (n.584-98T>C)
c.*376-98T>C (n.*376-98T>C)
c.487-20T>C (n.487-20T>C)
c.584-20T>C (n.584-20T>C)
c.*226-98T>C (n.*226-98T>C)
c.74-98T>C (n.74-98T>C)
n.252-98T>C
c.1757-98T>C (n.1757-98T>C)
c.644-98T>C (n.644-98T>C)
c.1739-98T>C (n.1739-98T>C)
c.1454-98T>C (n.1454-98T>C)
c.236-98T>C (n.236-98T>C)
n.606-20T>C
 dbSNP
17g.63488550T=CA2269945860ACEc.2306-98T= (n.2306-98T=)
c.584-98T= (n.584-98T=)
c.*376-98T= (n.*376-98T=)
c.487-20T= (n.487-20T=)
c.584-20T= (n.584-20T=)
c.*226-98T= (n.*226-98T=)
c.74-98T= (n.74-98T=)
n.252-98T=
c.1757-98T= (n.1757-98T=)
c.644-98T= (n.644-98T=)
c.1739-98T= (n.1739-98T=)
c.1454-98T= (n.1454-98T=)
c.236-98T= (n.236-98T=)
n.606-20T=
17g.63488551_63488552delCA2639263662ACEc.2306-97_2306-96del (n.2306-97_2306-96del)
c.584-97_584-96del (n.584-97_584-96del)
c.*376-97_*376-96del (n.*376-97_*376-96del)
c.487-19_487-18del (n.487-19_487-18del)
c.584-19_584-18del (n.584-19_584-18del)
c.*226-97_*226-96del (n.*226-97_*226-96del)
c.74-97_74-96del (n.74-97_74-96del)
n.252-97_252-96del
c.1757-97_1757-96del (n.1757-97_1757-96del)
c.644-97_644-96del (n.644-97_644-96del)
c.1739-97_1739-96del (n.1739-97_1739-96del)
c.1454-97_1454-96del (n.1454-97_1454-96del)
c.236-97_236-96del (n.236-97_236-96del)
n.606-19_606-18del
 gnomAD v4
17g.63488550_63488551insGGGCA985411494ACEc.2306-98_2306-97insGGG (n.2306-98_2306-97insGGG)
c.584-98_584-97insGGG (n.584-98_584-97insGGG)
c.*376-98_*376-97insGGG (n.*376-98_*376-97insGGG)
c.487-20_487-19insGGG (n.487-20_487-19insGGG)
c.584-20_584-19insGGG (n.584-20_584-19insGGG)
c.*226-98_*226-97insGGG (n.*226-98_*226-97insGGG)
c.74-98_74-97insGGG (n.74-98_74-97insGGG)
n.252-98_252-97insGGG
c.1757-98_1757-97insGGG (n.1757-98_1757-97insGGG)
c.644-98_644-97insGGG (n.644-98_644-97insGGG)
c.1739-98_1739-97insGGG (n.1739-98_1739-97insGGG)
c.1454-98_1454-97insGGG (n.1454-98_1454-97insGGG)
c.236-98_236-97insGGG (n.236-98_236-97insGGG)
n.606-20_606-19insGGG
 gnomAD v3 gnomAD v4
17g.63488550_63488551insGGCGGGATCTCGGCTCACTGCAAGCCA627148155ACEc.2306-98_2306-97insGGCGGGATCTCGGCTCACTGCAAGC (n.2306-98_2306-97insGGCGGGATCTCGGCTCACTGCAAGC)
c.584-98_584-97insGGCGGGATCTCGGCTCACTGCAAGC (n.584-98_584-97insGGCGGGATCTCGGCTCACTGCAAGC)
c.*376-98_*376-97insGGCGGGATCTCGGCTCACTGCAAGC (n.*376-98_*376-97insGGCGGGATCTCGGCTCACTGCAAGC)
c.487-20_487-19insGGCGGGATCTCGGCTCACTGCAAGC (n.487-20_487-19insGGCGGGATCTCGGCTCACTGCAAGC)
c.584-20_584-19insGGCGGGATCTCGGCTCACTGCAAGC (n.584-20_584-19insGGCGGGATCTCGGCTCACTGCAAGC)
c.*226-98_*226-97insGGCGGGATCTCGGCTCACTGCAAGC (n.*226-98_*226-97insGGCGGGATCTCGGCTCACTGCAAGC)
c.74-98_74-97insGGCGGGATCTCGGCTCACTGCAAGC (n.74-98_74-97insGGCGGGATCTCGGCTCACTGCAAGC)
n.252-98_252-97insGGCGGGATCTCGGCTCACTGCAAGC
c.1757-98_1757-97insGGCGGGATCTCGGCTCACTGCAAGC (n.1757-98_1757-97insGGCGGGATCTCGGCTCACTGCAAGC)
c.644-98_644-97insGGCGGGATCTCGGCTCACTGCAAGC (n.644-98_644-97insGGCGGGATCTCGGCTCACTGCAAGC)
c.1739-98_1739-97insGGCGGGATCTCGGCTCACTGCAAGC (n.1739-98_1739-97insGGCGGGATCTCGGCTCACTGCAAGC)
c.1454-98_1454-97insGGCGGGATCTCGGCTCACTGCAAGC (n.1454-98_1454-97insGGCGGGATCTCGGCTCACTGCAAGC)
c.236-98_236-97insGGCGGGATCTCGGCTCACTGCAAGC (n.236-98_236-97insGGCGGGATCTCGGCTCACTGCAAGC)
n.606-20_606-19insGGCGGGATCTCGGCTCACTGCAAGC
 dbSNP gnomAD v2
17g.63488551T>ACA985411497ACEc.2306-97T>A (n.2306-97T>A)
c.584-97T>A (n.584-97T>A)
c.*376-97T>A (n.*376-97T>A)
c.487-19T>A (n.487-19T>A)
c.584-19T>A (n.584-19T>A)
c.*226-97T>A (n.*226-97T>A)
c.74-97T>A (n.74-97T>A)
n.252-97T>A
c.1757-97T>A (n.1757-97T>A)
c.644-97T>A (n.644-97T>A)
c.1739-97T>A (n.1739-97T>A)
c.1454-97T>A (n.1454-97T>A)
c.236-97T>A (n.236-97T>A)
n.606-19T>A
 gnomAD v3 gnomAD v4
17g.63488551T>CCA627148157ACEc.2306-97T>C (n.2306-97T>C)
c.584-97T>C (n.584-97T>C)
c.*376-97T>C (n.*376-97T>C)
c.487-19T>C (n.487-19T>C)
c.584-19T>C (n.584-19T>C)
c.*226-97T>C (n.*226-97T>C)
c.74-97T>C (n.74-97T>C)
n.252-97T>C
c.1757-97T>C (n.1757-97T>C)
c.644-97T>C (n.644-97T>C)
c.1739-97T>C (n.1739-97T>C)
c.1454-97T>C (n.1454-97T>C)
c.236-97T>C (n.236-97T>C)
n.606-19T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63488551T>GCA627148156ACEc.2306-97T>G (n.2306-97T>G)
c.584-97T>G (n.584-97T>G)
c.*376-97T>G (n.*376-97T>G)
c.487-19T>G (n.487-19T>G)
c.584-19T>G (n.584-19T>G)
c.*226-97T>G (n.*226-97T>G)
c.74-97T>G (n.74-97T>G)
n.252-97T>G
c.1757-97T>G (n.1757-97T>G)
c.644-97T>G (n.644-97T>G)
c.1739-97T>G (n.1739-97T>G)
c.1454-97T>G (n.1454-97T>G)
c.236-97T>G (n.236-97T>G)
n.606-19T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63488551T=CA2269945862ACEc.2306-97T= (n.2306-97T=)
c.584-97T= (n.584-97T=)
c.*376-97T= (n.*376-97T=)
c.487-19T= (n.487-19T=)
c.584-19T= (n.584-19T=)
c.*226-97T= (n.*226-97T=)
c.74-97T= (n.74-97T=)
n.252-97T=
c.1757-97T= (n.1757-97T=)
c.644-97T= (n.644-97T=)
c.1739-97T= (n.1739-97T=)
c.1454-97T= (n.1454-97T=)
c.236-97T= (n.236-97T=)
n.606-19T=
17g.63488551_63488558delinsTTCGCCAACA2269945863ACEc.2306-97_2306-90delinsTTCGCCAA (n.2306-97_2306-90delinsTTCGCCAA)
c.584-97_584-90delinsTTCGCCAA (n.584-97_584-90delinsTTCGCCAA)
c.*376-97_*376-90delinsTTCGCCAA (n.*376-97_*376-90delinsTTCGCCAA)
c.487-19_487-12delinsTTCGCCAA (n.487-19_487-12delinsTTCGCCAA)
c.584-19_584-12delinsTTCGCCAA (n.584-19_584-12delinsTTCGCCAA)
c.*226-97_*226-90delinsTTCGCCAA (n.*226-97_*226-90delinsTTCGCCAA)
c.74-97_74-90delinsTTCGCCAA (n.74-97_74-90delinsTTCGCCAA)
n.252-97_252-90delinsTTCGCCAA
c.1757-97_1757-90delinsTTCGCCAA (n.1757-97_1757-90delinsTTCGCCAA)
c.644-97_644-90delinsTTCGCCAA (n.644-97_644-90delinsTTCGCCAA)
c.1739-97_1739-90delinsTTCGCCAA (n.1739-97_1739-90delinsTTCGCCAA)
c.1454-97_1454-90delinsTTCGCCAA (n.1454-97_1454-90delinsTTCGCCAA)
c.236-97_236-90delinsTTCGCCAA (n.236-97_236-90delinsTTCGCCAA)
n.606-19_606-12delinsTTCGCCAA
17g.63488551_63488552insCCA2810114480ACEc.2306-97_2306-96insC (n.2306-97_2306-96insC)
c.584-97_584-96insC (n.584-97_584-96insC)
c.*376-97_*376-96insC (n.*376-97_*376-96insC)
c.487-19_487-18insC (n.487-19_487-18insC)
c.584-19_584-18insC (n.584-19_584-18insC)
c.*226-97_*226-96insC (n.*226-97_*226-96insC)
c.74-97_74-96insC (n.74-97_74-96insC)
n.252-97_252-96insC
c.1757-97_1757-96insC (n.1757-97_1757-96insC)
c.644-97_644-96insC (n.644-97_644-96insC)
c.1739-97_1739-96insC (n.1739-97_1739-96insC)
c.1454-97_1454-96insC (n.1454-97_1454-96insC)
c.236-97_236-96insC (n.236-97_236-96insC)
n.606-19_606-18insC
17g.63488552T>ACA2810114479ACEc.2306-96T>A (n.2306-96T>A)
c.584-96T>A (n.584-96T>A)
c.*376-96T>A (n.*376-96T>A)
c.487-18T>A (n.487-18T>A)
c.584-18T>A (n.584-18T>A)
c.*226-96T>A (n.*226-96T>A)
c.74-96T>A (n.74-96T>A)
n.252-96T>A
c.1757-96T>A (n.1757-96T>A)
c.644-96T>A (n.644-96T>A)
c.1739-96T>A (n.1739-96T>A)
c.1454-96T>A (n.1454-96T>A)
c.236-96T>A (n.236-96T>A)
n.606-18T>A

Number of alleles fetched